Fausto Cossu

Publications by Year

Research Areas

Immunodeficiency and Autoimmune Disorders, Immune Cell Function and Interaction, Blood disorders and treatments, T-cell and B-cell Immunology, Lipoproteins and Cardiovascular Health

Most-Cited Works

• → Autosomal Recessive Hypercholesterolemia Caused by Mutations in a Putative LDL Receptor Adaptor Protein(2001)608 cited
• → Genetic Linkage of Hyper-IgE Syndrome to Chromosome 4(1999)404 cited
• → Clinical features, long-term follow-up and outcome of a large cohort of patients with Chronic Granulomatous Disease: An Italian multicenter study(2007)325 cited
• → Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome(2010)315 cited
• → Autosomal recessive hypercholesterolaemia in Sardinia, Italy, and mutations in ARH: a clinical and molecular genetic analysis(2002)163 cited
• → Genetics of SCID(2010)86 cited
• → A novel DKC1 mutation, severe combined immunodeficiency (T+B–NK– SCID) and bone marrow transplantation in an infant with Hoyeraal–Hreidarsson syndrome(2002)83 cited
• → Long-term follow-up of 168 patients with X-linked agammaglobulinemia reveals increased morbidity and mortality(2020)80 cited
• → Molecular analysis of the pre-BCR complex in a large cohort of patients affected by autosomal-recessive agammaglobulinemia(2007)49 cited
• → Molecular characterization of a large cohort of patients with Chronic Granulomatous Disease and identification of novel CYBB mutations: An Italian multicenter study(2009)43 cited